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Genetic Evaluation/Genetic Counseling
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Child with, or family history of children with, multiple malformations
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Mental retardation/developmental delays
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Known or suspected metabolic disorder: neonatal deaths, failure to thrive, organomegaly, loss of developmental milestones
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Common birth defects, such as cleft lip/palate, neural tube defects, clubfoot, congenital heart disease
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Child with unusual appearance, especially accompanied by failure to thrive or sub optimal psychomotor development
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Primary amenorrhea, aspermia, infertility or abnormal sexual development
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Known familial chromosomal abnormality
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Families with known hereditary conditions and/or questions about recurrence risks
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History of any disease "running in the family," especially hearing loss, blindness, neurodegenerative disorders, short stature, premature heart disease, immune deficiency, abnormalities of the hair, skin, or bones, or cancer
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Recurrent pregnancy loss/stillbirth
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Couples of "advanced age" (females over 35 and/or males over 55)
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Couples that are related
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Couples with an ethnic background suggesting an increased risk for a specific disorder, such as Jewish for Tay-Sachs, Black/Mediterranean/Asian for hemoglobinopathy/thalassemia
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Pregnant women, or women planning pregnancy, exposed to potential teratogens - radiation, chemicals, certain medications (anticonvulsants, anticoagulants, antimetabolites, thyroid antagonists, steroids), recreational drugs including alcohol, certain viral agents, very high fevers
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Women considering pregnancy who have a hereditary disorder (PKU, homocystinuria)
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Abnormal multiple marker screen/MSAFP
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Couples with questions about prenatal diagnosis for any disorder
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Patients in search of a diagnosis for some problem, with lack of success after a reasonable number of other consultations
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Familial cancer disorders
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